Association and linkage analyses of interleukin-6 gene 634C/G polymorphism and bone phenotypes in Chinese

• Published in: Journal of bone and mineral metabolism Vol. 23; no. 4; pp. 323 - 328
• Main Authors: Lei, Shu-Feng, Liu, Yao-Zhong, Deng, Fei-Yan, Li, Yu-Mei, Li, Miao-Xin, Deng, Hong-Wen
• Format: Journal Article
• Language: English
• Published: Tokyo Springer 01.07.2005; Springer Nature B.V
• Subjects: Adult; Aged; Biological and medical sciences; Bone and Bones - anatomy & histology; Bone density; Bone Density - genetics; Bone Density - immunology; Bones; China; Female; Humans; Interleukin-6 - genetics; Investigative techniques, diagnostic techniques (general aspects); Linkage Disequilibrium; Male; Medical sciences; Middle Aged; Osteoarticular system. Muscles; Osteoporosis; Phenotype; Polymorphism, Genetic; Radiodiagnosis. Nmr imagery. Nmr spectrometry; Skeletal system; Asia; China; Transmission disequilibrium test; Linkage; Size; Transmission; Interleukin- 6 gene; Interleukin 6; Phenotype; Gene; Genetic linkage; Genetics; Bone mineral density; Bone; Bone size; Polymorphism
• ISSN: 0914-8779; 1435-5604
• DOI: 10.1007/s00774-004-0607-y

In this study, we tested the interleukin-6 (IL-6) gene as an important candidate gene for its linkage and association with the variation of bone phenotypes (bone mineral density [BMD] and bone size) in young Chinese female subjects. We genotyped the IL-6 gene at the -634C/G restriction fragment length polymorphism (RFLP) site (ID, RS1800796) in 1263 individuals from 402 Chinese nuclear families, composed of both parents and at least one healthy daughter (mean age +/- SD, 31.4 +/- 5.8 years). Using the daughters' bone phenotypes, we tested total-family association, within-family association (via transmission disequilibrium test, [TDT]), and linkage, between the -634C/G marker and bone phenotypes at the spine and the hip. No significant association or linkage was found for bone size and BMD, although a trend was observed for linkage between the IL-6 gene -634C/G marker and L1-4 spinal BMD (adjusted for age, weight, and height). Our results, together with the findings from other studies, indicate that the IL-6 gene, although important for postmenopausal bone loss, may have a limited impact on peak bone mass variation in a Chinese population.